Collagen, type XI, alpha 1

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COL11A1
Identifiers
Aliases COL11A1, collagen, type XI, alpha 1, CO11A1, COLL6, STL2, collagen type XI alpha 1
External IDs MGI: 88446 HomoloGene: 56389 GeneCards: 1301
Genetically Related Diseases
Disease Name References
primary open angle glaucoma
RNA expression pattern
PBB GE COL11A1 204320 at tn.png

PBB GE COL11A1 37892 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001190709
NM_001854
NM_080629
NM_080630

NM_007729

RefSeq (protein)

NP_001177638.1
NP_001845.3
NP_542196.2
NP_542197.3

NP_031755.2

Location (UCSC) Chr 1: 102.88 – 103.11 Mb Chr 3: 114.03 – 114.22 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.[1][2]

Function[edit]

The COL11A1 gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Three transcript variants encoding different isoforms have been identified for this gene.[2]

Clinical significance[edit]

Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome.[2]

Stickler syndrome, type II is an autosomal dominant condition caused by a mutation in the COL11A1 gene. Features of Stickler syndrome type II include: sensorineural hearing loss, facial features (flat facial profile, anteverted nares, micrognathia), cleft palate, visual disturbances (type 2 vitreous anomaly, childhood-onset myopia, glaucoma, cataracts and retinal detachment), spondyloepiphyseal dysplasia, and arthropathy.

References[edit]

  1. ^ Bernard M, Yoshioka H, Rodriguez E, Van der Rest M, Kimura T, Ninomiya Y, Olsen BR, Ramirez F (Dec 1988). "Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue". J Biol Chem 263 (32): 17159–66. PMID 3182841. 
  2. ^ a b c "Entrez Gene: COL11A1 collagen, type XI, alpha 1". 

External links[edit]

Further reading[edit]